CPA6 (carboxypeptidase A6)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 57094
Gene name Carboxypeptidase A6
Gene symbol CPA6
Synonyms (NCBI Gene)
CPAHETL5FEB11
Chromosome 8
Chromosome location 8q13.2
Summary The gene encodes a member of the peptidase M14 family of metallocarboxypeptidases. The encoded preproprotein is proteolytically processed to generate the mature enzyme, which catalyzes the release of large hydrophobic C-terminal amino acids. This enzyme h
SNPs SNP information provided by dbSNP.
6
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (6)
SNP ID Visualize variation Clinical significance Consequence
rs35993949 G>C Likely-pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs147067921 A>G,T Conflicting-interpretations-of-pathogenicity 5 prime UTR variant, upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs199576384 T>C Pathogenic, uncertain-significance Non coding transcript variant, missense variant, coding sequence variant
rs376266840 T>C Pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs773734224 G>A Uncertain-significance, likely-pathogenic Stop gained, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT022945 hsa-miR-124-3p Microarray 18668037
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0004180 Function Carboxypeptidase activity IEA
GO:0004181 Function Metallocarboxypeptidase activity IBA
GO:0004181 Function Metallocarboxypeptidase activity IEA
GO:0004181 Function Metallocarboxypeptidase activity NAS 11836249
GO:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
609562 17245 ENSG00000165078
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N4T0
Protein name Carboxypeptidase A6 (EC 3.4.17.-)
Protein function May be involved in the proteolytic inactivation of enkephalins and neurotensin in some brain areas. May convert inactive angiotensin I into the biologically active angiotensin II (PubMed:18178555). Releases a C-terminal amino acid, with preferen
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02244 Propep_M14 43 → 118 Carboxypeptidase activation peptide Domain
PF00246 Peptidase_M14 145 → 424 Zinc carboxypeptidase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the hippocampus, nucleus raphe, and cortex. {ECO:0000269|PubMed:21922598}.
Sequence
Sequence length 437
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
242
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (18)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Conflicting classifications of pathogenicity rs35993949 RCV005898156
CPA6-related disorder Uncertain significance; Conflicting classifications of pathogenicity rs201194743, rs61738009, rs531326049, rs775212726, rs114402678, rs372964579 RCV003427609
RCV003930042
RCV003970068
RCV003901876
RCV003924858
RCV003925519
Epilepsy Conflicting classifications of pathogenicity; Uncertain significance rs61738009, rs35993949, rs771817870, rs139145929 RCV005355585
RCV005355781
RCV005367342
RCV000500175
Familial cancer of breast Benign rs17343819 RCV005888022
Show/Hide Text Mining Associations (8)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Brain Diseases Associate 26648591
Colitis Ulcerative Inhibit 32570281
Diabetes Mellitus Type 2 Associate 29650774
Epilepsies Partial Associate 23105115
Epilepsy Associate 23105115, 25875328
Epilepsy Temporal Lobe Associate 23105115, 25875328
Myoclonic Epilepsy Juvenile Associate 25875328
Seizures Febrile Associate 23105115, 25875328